Canonical Allele Identifier: CA2478881
Gene: ATXN7 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.63996406G>T
GRCh37 chr3:g.63982082G>T
Revel Score:
ENST00000398590 0.055
ENST00000295900 0.055
ENST00000487717 0.055
ENST00000538065 0.055
ENST00000484332 0.055
ENST00000522345 0.055
gnomAD v2:
3:63982082 G / T
gnomAD v3:
3:63996406 G / T
gnomAD v4:
chr3-63996406-G-T
Joint Max Group AF 2.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
3774729
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.63996406G>T , CM000665.2:g.63996406G>T GRCh38
NC_000003.11:g.63982082G>T , CM000665.1:g.63982082G>T GRCh37
NC_000003.10:g.63957122G>T NCBI36
NG_008227.1:g.136850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000522345.2:c.2584G>T ENSP00000428067.2:p.Val862Leu
ENST00000674280.1:c.2584G>T MANE Select ENSP00000501377.1:p.Val862Leu
ENST00000295900.10:c.2584G>T ENSP00000295900.6:p.Val862Leu
ENST00000474112.5:n.3137G>T
ENST00000484332.1:c.2149G>T ENSP00000428277.1:p.Val717Leu
ENST00000487717.5:c.2584G>T ENSP00000420234.1:p.Val862Leu
ENST00000522345.1:c.97G>T ENSP00000428067.1:p.Val33Leu
ENST00000538065.5:c.2584G>T ENSP00000439585.1:p.Val862Leu
NM_000333.3:c.2584G>T NP_000324.1:p.Val862Leu
NM_001128149.2:c.2149G>T NP_001121621.2:p.Val717Leu
NM_001177387.1:c.2584G>T NP_001170858.1:p.Val862Leu
NM_000333.4:c.2584G>T NP_000324.1:p.Val862Leu
NM_001128149.3:c.2149G>T NP_001121621.2:p.Val717Leu
NM_001377405.1:c.2584G>T MANE Select NP_001364334.1:p.Val862Leu
NM_001377406.1:c.2584G>T NP_001364335.1:p.Val862Leu
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